723830005: Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Hair follicle finding\Abnormal keratinisation of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\General finding of soft tissue\Skin finding\Rough skin\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Hair follicle finding\Abnormal keratinisation of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Functional finding\Abnormal keratinisation\...

\Rough skin\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Abnormal keratinisation of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Rough skin\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Hair follicle finding\Abnormal keratinisation of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Integumentary system finding\Abnormal keratinisation\Abnormal keratinisation of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Degenerative disorder\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Keratosis\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3426322013 Keratosis follicularis, dwarfism, cerebral atrophy syndrome en Synonym Active Case insensitive SNOMED CT core

3426323015 Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3426320017 Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present. en Definition Active Case sensitive SNOMED CT core

3426321018 Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Follicular hyperkeratosis	true	Inferred relationship	Some	2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Hair follicle structure	true	Inferred relationship	Some	2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Hair follicle disorder	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Functional finding	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Follicular keratosis	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Keratosis follicularis	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Cerebral atrophy	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Structure of cerebrum	false	Inferred relationship	Some	6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Follicular hyperkeratosis	false	Inferred relationship	Some	5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Hair follicle structure	false	Inferred relationship	Some	5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Disorder of skin appendage	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	Hereditary acantholytic dermatosis	true	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	3
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	Acantholysis	true	Inferred relationship	Some	4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3426322013	Keratosis follicularis, dwarfism, cerebral atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3426323015	Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3426320017	Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present.	en	Definition	Active	Case sensitive	SNOMED CT core
3426321018	Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	en	Definition	Active	Case sensitive	SNOMED CT core